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Detailed information for vg0908838284:

Variant ID: vg0908838284 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 8838284
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 1.00, others allele: 0.00, population size: 182. )

Flanking Sequence (100 bp) in Reference Genome:


CACTTTGTAGCTCCTTGATACACAGATCCACCAAAACATAGGAGTAGGGTGTTACGCTTCTCAGCGGCCCGAACCTGTATACATCGCTTGTGCTTCATGC[T/C]
CTTTCGATAGGTCGCGATCTTTCCACATACACAGAGAGCTTGGGATCTCACCCTGAGCCCCCGGCCGAACCGGCAAAGGGGGGCCCGTGCGGTCTCCCGG

Reverse complement sequence

CCGGGAGACCGCACGGGCCCCCCTTTGCCGGTTCGGCCGGGGGCTCAGGGTGAGATCCCAAGCTCTCTGTGTATGTGGAAAGATCGCGACCTATCGAAAG[A/G]
GCATGAAGCACAAGCGATGTATACAGGTTCGGGCCGCTGAGAAGCGTAACACCCTACTCCTATGTTTTGGTGGATCTGTGTATCAAGGAGCTACAAAGTG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 85.90% 1.90% 2.26% 9.90% NA
All Indica  2759 91.70% 0.00% 1.27% 7.03% NA
All Japonica  1512 80.10% 5.70% 4.23% 9.99% NA
Aus  269 54.30% 0.70% 1.12% 43.87% NA
Indica I  595 91.40% 0.00% 1.18% 7.39% NA
Indica II  465 91.60% 0.00% 1.29% 7.10% NA
Indica III  913 93.90% 0.00% 0.55% 5.59% NA
Indica Intermediate  786 89.30% 0.10% 2.16% 8.40% NA
Temperate Japonica  767 94.40% 0.50% 1.04% 4.04% NA
Tropical Japonica  504 62.10% 10.50% 6.55% 20.83% NA
Japonica Intermediate  241 72.20% 12.00% 9.54% 6.22% NA
VI/Aromatic  96 97.90% 0.00% 2.08% 0.00% NA
Intermediate  90 90.00% 1.10% 3.33% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0908838284 T -> DEL N N silent_mutation Average:48.562; most accessible tissue: Minghui63 flag leaf, score: 91.28 N N N N
vg0908838284 T -> C LOC_Os09g14830.1 upstream_gene_variant ; 209.0bp to feature; MODIFIER silent_mutation Average:48.562; most accessible tissue: Minghui63 flag leaf, score: 91.28 N N N N
vg0908838284 T -> C LOC_Os09g14820-LOC_Os09g14830 intergenic_region ; MODIFIER silent_mutation Average:48.562; most accessible tissue: Minghui63 flag leaf, score: 91.28 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0908838284 T C 0.01 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0908838284 3.10E-06 NA mr1719 All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251